A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050553



Internal ID18793084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12506929..12534302hg38UCSC Ensembl
Innerchr11:12528476..12555849hg19UCSC Ensembl
Innerchr11:12485052..12512425hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3827374
hg1927374
hg1827374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521014
Samples
Known GenesPARVA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050553
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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